Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome - Test2 - elhamkhani - TriplyDB

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

http://www.wikidata.org/entity/Q24621561

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Pathogenesis of Focal Segmental Glomerulosclerosis Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Clinical presentations of coenzyme q10 deficiency syndrome Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.Pharmacological targeting of GSK3β confers protection against podocytopathy and proteinuria by desensitizing mitochondrial permeability transition.Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome The Genetics of Nephrotic Syndrome.Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome Podocin and beta dystroglycan expression to study podocyte-podocyte and basement membrane matrix connections in adult protienuric states.Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome Genetics of hereditary nephrotic syndrome: a clinical review.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.Molecular and genetic basis of inherited nephrotic syndrome Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.The etiology of congenital nephrotic syndrome: current status and challenges.MAGI2 Mutations Cause Congenital Nephrotic Syndrome.A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.The amino acid mutations of the podocin in proteinuria: a meta-analysis.Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in north Indian population.Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.N-Degradomic Analysis Reveals a Proteolytic Network Processing the Podocyte Cytoskeleton.Domiciliary administration of intravenous albumin in congenital nephrotic syndrome.Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome Nephrotic syndrome in infancy can spontaneously resolve

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P2860

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

http://www.wikidata.org/entity/Q24621561

description

2010 nî lūn-bûn

@nan

2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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type

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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prefLabel

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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P1433

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Journal of the American Society of Nephrology

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Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

@en

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Audrey Pawtowski

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Eduardo Machuca

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Fabien Nevo

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Geneviève Benoit

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Marie-Josèphe Tête

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Patrick Niaudet

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P2860

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN

Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

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1209-17

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scholarly article

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3261436

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10.1681/ASN.2009121309

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P433

7

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21

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Corinne Antignac

Olivier Gribouval

Per Brandström

Marie-Claire Gubler

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2010-07-01T00:00:00Z

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P698

20507940

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P932

3152225

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